Genetic association between NLRP3 variants and Crohn's disease does not replicate in a large UK panel

Gregory J. Lewis, Dunecan C O Massey, Hu Zhang, Francesca Bredin, Mark Tremelling, James C. Lee, Carlo Berzuini, Miles Parkes

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Background: NLRP3 (formerly known as CIAS1 or NALP3) encodes a key component of the inflammasome and is a strong candidate gene for Crohn's disease (CD) susceptibility. A recent study reported significant and internally replicated association between CD and six single nucleotide polymorphisms (SNPs) in a regulatory region 5.3 kb downstream of NLRP3. Independent replication is required to verify these findings. Methods: In all, 1298 CD cases and 1244 healthy controls were genotyped for the six SNPs using Taqman. Single locus, haplotype, and subphenotype analyses were conducted using logistic regression-based methods and PLINK, respectively. Results: No significant associations were found, either on single locus, subphenotype, or haplotype analysis. Conclusions: Given our high (>90%) power to replicate findings from the index study, our data suggest either a much smaller effect size for the association between NLRP3 and CD susceptibility than previously reported or the possibility of a false-positive result in the index study. Further studies in other populations are required to determine what role, if any, NLRP3 variants play in CD susceptibility. © 2010 Crohns & Colitis Foundation of America, Inc.
    Original languageEnglish
    Pages (from-to)1387-1391
    Number of pages4
    JournalInflammatory Bowel Diseases
    Volume17
    Issue number6
    DOIs
    Publication statusPublished - Jun 2011

    Keywords

    • Crohn's disease
    • genetics
    • inflammasome
    • NLRP3

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